Log in

Relevant bibliographies by topics / Autosomal recessive / Journal articles

To see the other types of publications on this topic, follow the link: Autosomal recessive.

Journal articles on the topic 'Autosomal recessive'

Author: Grafiati

Published: 4 June 2021

Last updated: 26 July 2025

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 50 journal articles for your research on the topic 'Autosomal recessive.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.

1

Mahdi, Awad H. "Autosomal Recessive Osteopetrosis." Annals of Saudi Medicine 14, no. 2 (1994): 102–6. http://dx.doi.org/10.5144/0256-4947.1994.102.

Full text

APA, Harvard, Vancouver, ISO, and other styles

2

Altintaş, Ayşegül Koçak, Mehmet Akif Acar, Ilgaz Saĝdiç Yalvaç, Inci Koçak, Ayşe Nurözler, and Sunay Duman. "Autosomal recessive nanophthalmos." Acta Ophthalmologica Scandinavica 75, no. 3 (2009): 325–28. http://dx.doi.org/10.1111/j.1600-0420.1997.tb00788.x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

3

Baker, L. R., and T. C. Stamp. "Autosomal recessive hypophosphataemia." Archives of Disease in Childhood 64, no. 8 (1989): 1209. http://dx.doi.org/10.1136/adc.64.8.1209-a.

Full text

APA, Harvard, Vancouver, ISO, and other styles

4

AL GAZASLI, L. I., and F. ABOU AL-ASAAD. "Autosomal recessive omodysplasia." Clinical Dysmorphology 4, no. 1 (1995): 52???56. http://dx.doi.org/10.1097/00019605-199501000-00007.

Full text

APA, Harvard, Vancouver, ISO, and other styles

5

Soutar, Anne K., and Rossitza P. Naoumova. "Autosomal Recessive Hypercholesterolemia." Seminars in Vascular Medicine 4, no. 03 (2004): 241–48. http://dx.doi.org/10.1055/s-2004-861491.

Full text

APA, Harvard, Vancouver, ISO, and other styles

6

Boon, Camiel J. F., L. Ingeborgh van den Born, Linda Visser, et al. "Autosomal Recessive Bestrophinopathy." Ophthalmology 120, no. 4 (2013): 809–20. http://dx.doi.org/10.1016/j.ophtha.2012.09.057.

Full text

APA, Harvard, Vancouver, ISO, and other styles

7

Bonifati, Vincenzo. "Autosomal recessive parkinsonism." Parkinsonism & Related Disorders 18 (January 2012): S4—S6. http://dx.doi.org/10.1016/s1353-8020(11)70004-9.

Full text

APA, Harvard, Vancouver, ISO, and other styles

8

D’Erasmo, Laura, Ilenia Minicocci, Antonio Nicolucci, et al. "Autosomal Recessive Hypercholesterolemia." Journal of the American College of Cardiology 71, no. 3 (2018): 279–88. http://dx.doi.org/10.1016/j.jacc.2017.11.028.

Full text

APA, Harvard, Vancouver, ISO, and other styles

9

Kajii, Tadashi, and Masato Tsukahara. "Autosomal recessive lymphedema?" Japanese Journal of Human Genetics 31, no. 1 (1986): 57. http://dx.doi.org/10.1007/bf01876803.

Full text

APA, Harvard, Vancouver, ISO, and other styles

10

D’Erasmo, Laura, Alessia Di Costanzo, and Marcello Arca. "Autosomal recessive hypercholesterolemia." Current Opinion in Lipidology 31, no. 2 (2020): 56–61. http://dx.doi.org/10.1097/mol.0000000000000664.

Full text

APA, Harvard, Vancouver, ISO, and other styles

11

Kalevar, Ananda, Judy J. Chen, H. Richard McDonald, and Arthur D. Fu. "AUTOSOMAL RECESSIVE BESTROPHINOPATHY." Retinal Cases & Brief Reports 12 (2018): S51—S54. http://dx.doi.org/10.1097/icb.0000000000000707.

Full text

APA, Harvard, Vancouver, ISO, and other styles

12

May, A. "Autosomal recessive disorders." BMJ 298, no. 6676 (1989): 830. http://dx.doi.org/10.1136/bmj.298.6676.830-c.

Full text

APA, Harvard, Vancouver, ISO, and other styles

13

Nixon, Thomas R. W., Allan J. Richards, Howard Martin, Philip Alexander, and Martin P. Snead. "Autosomal Recessive Stickler Syndrome." Genes 13, no. 7 (2022): 1135. http://dx.doi.org/10.3390/genes13071135.

Full text

Abstract:

Stickler syndrome (SS) is a genetic disorder with manifestations in the eye, ear, joints, face and palate. Usually inherited in a dominant fashion due to heterozygous pathogenic variants in the collagen genes COL2A1 and COL11A1, it can rarely be inherited in a recessive fashion from variants in COL9A1, COL9A2, and COL9A3, COL11A1, as well as the non-collagen genes LRP2, LOXL3 and GZF1. We review the published cases of recessive SS, which comprise 40 patients from 23 families. Both homozygous and compound heterozygous pathogenic variants are found. High myopia is near-universal, and sensorineur

APA, Harvard, Vancouver, ISO, and other styles

14

Pillai, Nishitha R., Anjali Aggarwal, and Paul Orchard. "Phenotype-autosomal recessive osteopetrosis." Bone 165 (December 2022): 116577. http://dx.doi.org/10.1016/j.bone.2022.116577.

Full text

APA, Harvard, Vancouver, ISO, and other styles

15

Barohn, R. J., R. G. Miller, and R. C. Griggs. "Autosomal recessive distal dystrophy." Neurology 41, no. 9 (1991): 1365. http://dx.doi.org/10.1212/wnl.41.9.1365.

Full text

APA, Harvard, Vancouver, ISO, and other styles

16

Magee, A. C., H. C. Mulholland, and G. McGinnity. "Autosomal recessive CHARGE association." Pediatric Research 44, no. 3 (1998): 427. http://dx.doi.org/10.1203/00006450-199809000-00080.

Full text

APA, Harvard, Vancouver, ISO, and other styles

17

Mathews, Katherine D., Adel K. Afifi, and James W. Hanson. "Autosomal Recessive Cerebellar Hypoplasia." Journal of Child Neurology 4, no. 3 (1989): 189–94. http://dx.doi.org/10.1177/088307388900400307.

Full text

APA, Harvard, Vancouver, ISO, and other styles

18

Hayashi, Takashi, Tadashi Kaju, and Eli Shahar. "Autosomal recessive startle disorder." Acta Paediatrica 82, no. 1 (1993): 124. http://dx.doi.org/10.1111/j.1651-2227.1993.tb12540.x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

19

Tekedereli, Ibrahim, Emine Demiral, Ismail K. Gokce, Zeynep Esener, Emine Camtosun, and Aysehan Akinci. "Autosomal recessive cutis laxa." Clinical Dysmorphology 28, no. 2 (2019): 63–65. http://dx.doi.org/10.1097/mcd.0000000000000258.

Full text

APA, Harvard, Vancouver, ISO, and other styles

20

Dunn, Andrew. "Autosomal/Recessive Hypocalciuric Hypercalcemia." Annals of Internal Medicine 126, no. 10 (1997): 835. http://dx.doi.org/10.7326/0003-4819-126-10-199705150-00039.

Full text

APA, Harvard, Vancouver, ISO, and other styles

21

Van Peenen, H. J. "Autosomal/Recessive Hypocalciuric Hypercalcemia." Annals of Internal Medicine 126, no. 10 (1997): 835. http://dx.doi.org/10.7326/0003-4819-126-10-199705150-00040.

Full text

APA, Harvard, Vancouver, ISO, and other styles

22

Bonifati, V. "1.1.2 AUTOSOMAL RECESSIVE PARKINSONISM." Parkinsonism & Related Disorders 18 (January 2012): S1. http://dx.doi.org/10.1016/s1353-8020(11)70075-x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

23

Saito, Masaaki, Mieko Maruyama, Ken Ikeuchi, et al. "Autosomal recessive juvenile parkinsonism." Brain and Development 22 (September 2000): 115–17. http://dx.doi.org/10.1016/s0387-7604(00)00137-6.

Full text

APA, Harvard, Vancouver, ISO, and other styles

24

Isaacs, H., M. E. Badenhorst, and T. Whistler. "Autosomal recessive distal myopathy." Journal of Clinical Pathology 41, no. 2 (1988): 188–94. http://dx.doi.org/10.1136/jcp.41.2.188.

Full text

APA, Harvard, Vancouver, ISO, and other styles

25

Fischer, Judith. "Autosomal Recessive Congenital Ichthyosis." Journal of Investigative Dermatology 129, no. 6 (2009): 1319–21. http://dx.doi.org/10.1038/jid.2009.57.

Full text

APA, Harvard, Vancouver, ISO, and other styles

26

Gualandi, F., A. Urciuolo, E. Martoni, et al. "Autosomal recessive Bethlem myopathy." Neurology 73, no. 22 (2009): 1883–91. http://dx.doi.org/10.1212/wnl.0b013e3181c3fd2a.

Full text

APA, Harvard, Vancouver, ISO, and other styles

27

Rodríguez-Pazos, L., M. Ginarte, A. Vega, and J. Toribio. "Autosomal Recessive Congenital Ichthyosis." Actas Dermo-Sifiliográficas (English Edition) 104, no. 4 (2013): 270–84. http://dx.doi.org/10.1016/j.adengl.2011.11.021.

Full text

APA, Harvard, Vancouver, ISO, and other styles

28

Harris, Christopher M., Anthony Kriss, and Isabelle Russell-Eggitt. "Autosomal recessive cerebellar hypoplasia." Pediatric Neurology 9, no. 3 (1993): 247. http://dx.doi.org/10.1016/0887-8994(93)90096-u.

Full text

APA, Harvard, Vancouver, ISO, and other styles

29

Sabatelli, M., T. Mignogna, G. Lippi, et al. "Autosomal recessive hypermyelinating neuropathy." Acta Neuropathologica 87, no. 4 (1994): 337–42. http://dx.doi.org/10.1007/s004010050095.

Full text

APA, Harvard, Vancouver, ISO, and other styles

30

Ramirez, Dorian, Edward J. Lammer, Caroline B. Johnson, and Cynthia D. Peterson. "Autosomal recessive frontotemporal pachygyria." American Journal of Medical Genetics 124A, no. 3 (2003): 231–38. http://dx.doi.org/10.1002/ajmg.a.20388.

Full text

APA, Harvard, Vancouver, ISO, and other styles

31

Haber, R. M. "Autosomal recessive pachyonychia congenita." Archives of Dermatology 122, no. 8 (1986): 919–23. http://dx.doi.org/10.1001/archderm.122.8.919.

Full text

APA, Harvard, Vancouver, ISO, and other styles

32

Miltényi, Miklós, Andrew E. Czeizel, Lidia Balogh, and Zoltán Detre. "Autosomal recessive acrorenal syndrome." American Journal of Medical Genetics 43, no. 5 (1992): 789–90. http://dx.doi.org/10.1002/ajmg.1320430506.

Full text

APA, Harvard, Vancouver, ISO, and other styles

33

Zlotogora, Joël, Cyril Legum, Judith Raz, Saul Merin, and David Benezra. "Autosomal recessive colobomatous microphthalmia." American Journal of Medical Genetics 49, no. 3 (1994): 261–62. http://dx.doi.org/10.1002/ajmg.1320490302.

Full text

APA, Harvard, Vancouver, ISO, and other styles

34

Teebi, Ahmad S., Kamal K. Naguib, John M. Opitz, and James F. Reynolds. "Autosomal recessive nonsyndromal hydrocephalus." American Journal of Medical Genetics 31, no. 2 (1988): 467–70. http://dx.doi.org/10.1002/ajmg.1320310228.

Full text

APA, Harvard, Vancouver, ISO, and other styles

35

Teebi, Ahmad S. "Autosomal recessive Robinow syndrome." American Journal of Medical Genetics 35, no. 1 (1990): 64–68. http://dx.doi.org/10.1002/ajmg.1320350112.

Full text

APA, Harvard, Vancouver, ISO, and other styles

36

Haber, Richard M. "Autosomal Recessive Pachyonychia Congenita." Archives of Dermatology 122, no. 8 (1986): 919. http://dx.doi.org/10.1001/archderm.1986.01660200091023.

Full text

APA, Harvard, Vancouver, ISO, and other styles

37

Sabatelli, M., T. Mignogna, G. Lippi, et al. "Autosomal recessive hypermyelinating neuropathy." Acta Neuropathologica 87, no. 4 (1994): 337–42. http://dx.doi.org/10.1007/bf00313601.

Full text

APA, Harvard, Vancouver, ISO, and other styles

38

Angelini, Chloé, Marie Thibaud, Nathalie Aladjidi, et al. "Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA." Neuropediatrics 51, no. 04 (2020): 245–50. http://dx.doi.org/10.1055/s-0040-1701671.

Full text

Abstract:

AbstractCutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in ALDH18A1. Autosomal recessive variants are known to lead to the most severe neurological phenotype, and very few patients have been described.We describe a 13-month-old patient with cutis laxa, autosomal recessive, type IIIA, with an extremely severe phenotype, including novel neurological findings. Th

APA, Harvard, Vancouver, ISO, and other styles

39

Ancliff, Phil J., Rosemary E. Gale, Ri Liesner, Ian M. Hann, and David C. Linch. "Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease." Blood 98, no. 9 (2001): 2645–50. http://dx.doi.org/10.1182/blood.v98.9.2645.

Full text

Abstract:

Abstract Severe congenital neutropenia (SCN) was originally described as an autosomal recessive disorder. Subsequently, autosomal dominant and sporadic forms of the disease have been recognized. All forms are manifest by persistent severe neutropenia and recurrent bacterial infection. In contrast, cyclical hematopoiesis is characterized by periodic neutropenia inter-spaced with (near) normal neutrophil counts. Recently, linkage analysis on 13 affected pedigrees identified chromosome 19p13.3 as the likely position for mutations in cyclical hematopoiesis. Heterozygous mutations in the ELA2 gene

APA, Harvard, Vancouver, ISO, and other styles

40

Hegab, Samiha M., and Samia A. Al-mutawa. "Congenital hereditary autosomal recessive alacrima." Ophthalmic Genetics 17, no. 1 (1996): 35–38. http://dx.doi.org/10.3109/13816819609057867.

Full text

APA, Harvard, Vancouver, ISO, and other styles

41

Руденская, Г. Е., В. А. Кадникова, А. Л. Чухрова, Т. В. Маркова, and О. П. Рыжкова. "Rare autosomal recessive spastic paraplegias." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 11() (November 29, 2019): 26–35. http://dx.doi.org/10.25557/2073-7998.2019.11.26-35.

Full text

Abstract:

Актуальность. Наследственные спастические параплегии (НСП) - одна из наиболее гетерогенных групп наследственных нервных болезней, насчитывающая около 80 клинико-генетических форм (SPG) с хронологической нумерацией. Методы высокопроизводительного экзомного секвенирования (MPS) принципиально расширили возможности выделения новых SPG и практической ДНК-диагностики. В ФГБНУ МГНЦ проводится первое в России комплексное клинико-молекулярное исследование НСП на основе MPS и ряда дополнительных методов ДНК-анализа. Группа верифицированных случаев насчитывает 114 семей с 20 различными формами, включая р

APA, Harvard, Vancouver, ISO, and other styles

42

Fon Gabršček, Anja, and Rina Rus. "AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE." Slovenska pediatrija, revija pediatrov Slovenije in specialistov šolske ter visokošolske medicine Slovenije 29, no. 1 (2022): 17–21. http://dx.doi.org/10.38031/slovpediatr-2022-1-03en.

Full text

APA, Harvard, Vancouver, ISO, and other styles

43

Liza, Mohapatra, Dash Gaurav, Mohanty Prasenjeet, Jena Swapna, and Behera Binodini. "Autosomal-Recessive Hyper-IgE syndrome." Indian Journal of Dermatology 63, no. 1 (2018): 79. http://dx.doi.org/10.4103/ijd.ijd_445_16.

Full text

APA, Harvard, Vancouver, ISO, and other styles

44

Anheim, Mathieu, Christine Tranchant, and Michel Koenig. "The Autosomal Recessive Cerebellar Ataxias." New England Journal of Medicine 366, no. 7 (2012): 636–46. http://dx.doi.org/10.1056/nejmra1006610.

Full text

APA, Harvard, Vancouver, ISO, and other styles

45

Parfrey, Patrick S. "Autosomal-recessive polycystic kidney disease." Kidney International 67, no. 4 (2005): 1638–48. http://dx.doi.org/10.1111/j.1523-1755.2005.00246.x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

46

Teebi, A. S., K. K. Naguib, S. Al-Awadi, and Q. A. Al-Saleh. "New autosomal recessive faciodigitogenital syndrome." Journal of Medical Genetics 25, no. 6 (1988): 400–406. http://dx.doi.org/10.1136/jmg.25.6.400.

Full text

APA, Harvard, Vancouver, ISO, and other styles

47

Alsaleh, Q. A., and A. S. Teebi. "Autosomal recessive epidermolytic palmoplantar keratoderma." Journal of Medical Genetics 27, no. 8 (1990): 519–22. http://dx.doi.org/10.1136/jmg.27.8.519.

Full text

APA, Harvard, Vancouver, ISO, and other styles

48

Goldstein, D. Yitzchak, and Michael Prystowsky. "Educational Case: Autosomal Recessive Inheritance." Academic Pathology 4 (January 1, 2017): 237428951769176. http://dx.doi.org/10.1177/2374289517691769.

Full text

Abstract:

The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objectives for all three competencies, see http://journals.sagepub.com/doi/10.1177/2374289517715040 .

APA, Harvard, Vancouver, ISO, and other styles

49

TEEBI, A. S. "Autosomal recessive Silver-Russell syndrome." Clinical Dysmorphology 1, no. 3 (1992): 151???156. http://dx.doi.org/10.1097/00019605-199207000-00005.

Full text

APA, Harvard, Vancouver, ISO, and other styles

50

Herman, T. E., and M. J. Siegel. "Infantile autosomal-recessive malignant osteopetrosis." Journal of Perinatology 27, no. 7 (2007): 455–56. http://dx.doi.org/10.1038/sj.jp.7211743.

Full text

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!